Leopard syndrome

Disease Term Disease ID Gene Symbol Classification References Source
LEOPARD SYNDROME
C0175704MESH:D044542
BRAF Unknown — Disgenet
EPHA2 Unknown
22845314
CTD Disgenet
MAP2K1 Unknown — Disgenet
MAP2K2 Unknown — Disgenet
NRAS Unknown — Disgenet
PPP1R13L Unknown — Disgenet
PTEN Unknown
11685670
CTD Disgenet
PTPN11 Unknown
17603483
CTD Disgenet
RAF1 Unknown
17603483
CTD Disgenet
LEOPARD SYNDROME 1
151100C4551484MONDO:0100082
PTPN11 Causal
27484170 26377839 25917897 25884655 24820750 22822385 21910226 23799168 21747628 21677813 21365175 19864201 19768645 19659470 19054014 24790373 17927788 17875892 16733669 15520399 12058348 17697839 11992261 16358218 15121796 16377
ClinVar Disgenet GWAS catalog HPO
RPL6 Unknown — Disgenet
LEOPARD SYNDROME 2
611554C1969056MONDO:0012691
RAF1 Causal
17603482 17603483
ClinVar Disgenet HPO
MKRN2 Unknown — Disgenet
LEOPARD SYNDROME 3
613707C3150971MONDO:0013380OMIM:613707
BRAF Causal — CTD ClinVar Disgenet GenCC HPO
LEOPARD SYNDROME, 2
MESH:C537117
RAF1 Unknown — CTD